Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series

BACKGROUND: Inherited retinal dystrophies describe a heterogeneous group of retinal diseases that lead to the irreversible degeneration of rod and cone photoreceptors and eventual blindness. Recessive loss-of-function mutations in Tubulin Tyrosine Ligase Like 5 (TTLL5) represent a recently described...

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Detalles Bibliográficos
Autores principales: Oh, Jin Kyun, Vargas Del Valle, José G., Lima de Carvalho, Jose Ronaldo, Sun, Young Joo, Levi, Sarah R., Ryu, Joseph, Yang, Jing, Nagasaki, Takayuki, Emanuelli, Andres, Rasool, Nailyn, Allikmets, Rando, Sparrow, Janet R., Izquierdo, Natalio J., Duncan, Jacque L., Mahajan, Vinit B., Tsang, Stephen H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8973795/
https://www.ncbi.nlm.nih.gov/pubmed/35365235
http://dx.doi.org/10.1186/s13023-022-02295-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8973795/
https://www.ncbi.nlm.nih.gov/pubmed/35365235
http://dx.doi.org/10.1186/s13023-022-02295-9

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